1,721,335 research outputs found
Aggiornamento sulla malattia di Hallervorden-Spatz
La neurodegenerazione con accumulo di ferro a livello cerebrale (NBIA, precedentemente definita come sindrome di Hallervorden-Spatz) comprende un gruppo di patologie neurodegenerative caratterizzate da disfunzioni extrapiramidali progressive (distonia, rigidità, coreoatetosi), accumulo di ferro nel cervello e presenza di sferoidi assonali, di solito limitati al sistema nervoso centrale
Ballismo, atetosi e discinesie parossistiche
.Atetosi, ballismo e corea sono espressioni di patologia dei nuclei della base che si collocano tra i disturbi di movimento di tipo ipercinetico. L'atetosi spesso rappresenta un esito di sofferenza cerebrale perinatale e si caratterizza per lenti movimenti flessoestensori distali delle estremità degli arti. Il ballismo, di regola correlato a lesioni vascolari del nucleo subtalamico, si manifesta con intensi movimenti di slancio degli arti. Nella corea, movimenti afinalistici ripetitivi possono coinvolgere capo, tronco e arti. Le discinesie parossistiche vengono oggi comprese tra le canalopatie e sono caratterizzate da movimenti coreoatetosici a carattere accessuale. Per il ballismo sono possibili terapie farmacologiche con antagonisti dopaminergici ed agonisti GABAergici, mentre l'attualità chirurgica è indirizzata all'uso della neurostimolazione intracerebrale. Analoghe proposte terapeutiche farmacologiche sono state impiegate, con risultati meno brillanti, nell'atetosi, dove anche l'approccio chirurgico ha dato solo modesti risultati isolati con la talamotomia stereotassica. Le discinesie parossistiche rispondono invece favorevolmente, secondo diverse tipologie cliniche, a farmaci antiepilettici, levodopa, benzodiazepine
Progetto Pegaso: creazione di aree marine protette con strutture deterrenti antistrascico.
Movement disorders in oncology: From clinical features to biomarkers
Background: the study of movement disorders associated with oncological diseases and anticancer treatments highlights the wide range of differential diagnoses that need to be considered. In this context, the role of immune-mediated conditions is increasingly recognized and relevant, as they represent treatable disorders. Methods: we reappraise the phenomenology, pathophysiology, diagnostic testing, and treatment of movement disorders observed in the context of brain tumors, paraneoplastic conditions, and cancer immunotherapy, such as immune-checkpoint inhibitors (ICIs). Results: movement disorders secondary to brain tumors are rare and may manifest with both hyper-/hypokinetic conditions. Paraneoplastic movement disorders are caused by antineuronal antibodies targeting intracellular or neuronal surface antigens, with variable prognosis and response to treatment. ICIs promote antitumor response by the inhibition of the immune checkpoints. They are effective treatments for several malignancies, but they may cause movement disorders through an unchecked immune response. Conclusions: movement disorders due to focal neoplastic brain lesions are rare but should not be missed. Paraneoplastic movement disorders are even rarer, and their clinical-laboratory findings require focused expertise. In addition to their desired effects in cancer treatment, ICIs can induce specific neurological adverse events, sometimes manifesting with movement disorders, which often require a case-by-case, multidisciplinary, approach
Contrast enhancement issues in the MR evaluation of the central nervous system
Because of its high intrinsic contrast resolution, magnetic resonance imaging (MRI) has largely replaced computed tomography (CT) in the diagnosis of central nervous system (CNS) diseases, and the use of contrast media in MRI of the CNS has increased progressively, gadolinium chelates being, by far, the most used ones. Our paper will focus on the current indications for contrast-enhanced MR imaging of the CNS and will outline the current role and the future trends in contrast medium (CM) administration in the diagnosis of CNS disease. Gadolinium chelates are now routinely employed in MRI of the brain and spine and have been shown to be relatively safe and well tolerated at standard doses of 0.1 mmol/kg b. w. Although there is general consensus on the usefulness of CM administration in MRI of the CNS, some controversy still persists on the type of CM to be used, on the administration scheme, and on the imaging protocol. The current trend is toward selective employment of CM, the effect of which can be enhanced by Magnetization Transfer (MT) techniques, to increase the sensitivity of the procedure. Double or triple doses of CM can be useful in the detection of small parenchymal lesions with faint enhancement, in functional/dynamic studies of the brain parenchyma and in MR angiography. Gadoteridol (ProHance(R)) closely resembles the features of an optimal CM, because it is non-ionic, has a low osmolality and a low viscosity, and may be particularly efficacious when high doses are required
Parkinson's disease misdiagnosed as multiple system atrophy by sphincter electro-myography
Secondary parkinsonism due to arachnoid cyst of the frontal lobe.
A 42-year-old right-handed woman presented with a 1 year history of headache, localised in both frontoparietal regions, and a 6 month history of left-sided tremor and clumsiness; depression was another notable symptom of this patient. Neurological examination revealed left hemiparkinsonism, characterised by mixed tremor (postural, action and intermittent rest tremor) in both extremities, hypomimia, bradykinesia, cogwheel rigidity and loss of arm swing during gait on the left hand side. Deep tendon reflexes were brisk on the left side with a positive Babinski sign. The Unified Parkinson's Disease Rating Scale motor
Going Beyond Counting First Authors in Author Co-citation Analysis
The present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Therapeutic interventions in parkinsonism: corticobasal degeneration
Corticobasal degeneration (CBD) is a progressive neurodegenerative disorder resulting from pathological accumulation of tau protein and is included in the spectrum of Atypical Parkinsonism. The typical clinical phenotype of CBD is characterized by the Corticobasal syndrome (CBS). In recent years it has become clear that the clinical picture of CBS may be caused by different pathological conditions, resulting in frequent misdiagnosis. CBD has high morbidity and poor prognosis with no effective therapies. In this review, we will discuss the symptomatic treatment, the palliative care and the disease modifying strategies currently in use. Symptomatic treatment in patients with CBD may sometimes be useful for improving motor (parkinsonism, dystonia and myoclonus) and non-motor (cognitive-behavioral) symptoms, but the effects are often unsatisfactory. In addition, non-pharmacological strategies and palliative care are useful integrating components of the multidisciplinary therapeutic approach for patients with CBD. Despite many efforts, a disease-modifying treatment is still unavailable for CBD
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